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GBA1 T369M and Parkinson's disease - Further evidence of a lack of association in the Swedish population
Translational Neurogenetics Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden; Centre for Preventive Neurology, Wolfson Institute of Population Health, Queen Mary University of London, London, United Kingdom.
Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Neurovetenskaper.
Division of Neurology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden; Department of Neurology, Skåne University Hospital, Lund, Sweden.
Department of Neurology & Neurosurgery, McGill University, QC, Montreal, Canada; Clinical Research Unit, The Neuro (Montreal Neurological Institute-Hospital), QC, Montreal, Canada; Department of Human Genetics, McGill University, QC, Montreal, Canada.
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2025 (engelsk)Inngår i: Parkinsonism & Related Disorders, ISSN 1353-8020, E-ISSN 1873-5126, Vol. 130, artikkel-id 107191Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Variants in GBA1 are important genetic risk factors in Parkinson's disease (PD). GBA1 T369M has been linked to an ∼80 % increased PD risk but the reports are conflicting and the relevance of GBA1 variants in different populations varies. A lack of association between T369M and PD in the Swedish population was recently reported but needs further validation. We therefore investigated T369M in 1,808 PD patients and 2,183 controls and our results support that T369M is not a risk factor for PD in the Swedish population.

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Elsevier, 2025. Vol. 130, artikkel-id 107191
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Identifikatorer
URN: urn:nbn:se:umu:diva-231641DOI: 10.1016/j.parkreldis.2024.107191ISI: 001354758400001Scopus ID: 2-s2.0-85208201476OAI: oai:DiVA.org:umu-231641DiVA, id: diva2:1914282
Forskningsfinansiär
Swedish Research Council, 2022-00775Knut and Alice Wallenberg Foundation, 2022-0231The Swedish Brain Foundation, FO2021-0293Parkinsonfonden, 1412/22Konung Gustaf V:s och Drottning Victorias FrimurarestiftelseRegion SkåneHans-Gabriel och Alice Trolle-Wachtmeisters stiftelse för medicinsk forskningTilgjengelig fra: 2024-11-19 Laget: 2024-11-19 Sist oppdatert: 2025-04-24bibliografisk kontrollert

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